A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398456



Internal ID177852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138941911..138941962hg38UCSC Ensembl
chr7:138626657..138626708hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004389
Samples
Known GenesKIAA1549
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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